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  3. TBCE
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Fetal anomalies

Gene: TBCE

Green List (high evidence)
TBCE (tubulin folding cofactor E)
EnsemblGeneIds (GRCh38): ENSG00000116957
EnsemblGeneIds (GRCh37): ENSG00000116957
OMIM: 604934, Gene2Phenotype
TBCE is in 9 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Promote TBCE from Amber to Green.
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311
Comment on list classification: Kept rating as Amber following comment from Deirdre Cilliers that phenotype is not fetally-relevant. Originally rated as Amber based on multiple ratings for multiple disorders in PAGE upload file/DDG2P.
Created: 11 Feb 2019, 4:36 p.m.
Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: No [TBCE should not be on the Fetal anomalies panel]. Would not usually present prenatally.
Created: 11 Feb 2019, 4:35 p.m.
'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Created: 8 Nov 2018, 8:54 p.m.
In the original PAGE file: rated as Confirmed for KENNY-CAFFEY SYNDROME TYPE 1 and HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, and rated as Probable for Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy. In the original PAGE file, MOP listed as LOF for KENNY-CAFFEY SYNDROME TYPE 1 and HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, and listed as All missense/in frame for Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy. In original PAGE file, MOI is 'biallelic' for all three disorders (KENNY-CAFFEY SYNDROME TYPE 1; HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy).
Created: 8 Nov 2018, 4:45 p.m.
Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.311

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy
  • HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
  • KENNY-CAFFEY SYNDROME TYPE 1
Tags
watchlist
OMIM
604934
Clinvar variants
Variants in TBCE
Penetrance
None
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 3

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Green was added to TBCE. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

11 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: tbce has been classified as Amber List (Moderate Evidence).

8 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: TBCE.

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy for gene: TBCE

8 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME for gene: TBCE

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: TBCE was added gene: TBCE was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBCE were set to KENNY-CAFFEY SYNDROME TYPE 1